Gene (GenBank ID) | Alteration | Protein modification | Bibliographical reference |
---|---|---|---|
GJB2 (ID 2706) | c.283G > A | p.V95M | [19] |
c.339 T > G | p.S113R | [19] | |
c.279G > A | p.M93I | [20] | |
c.286G > A | p.W24X | [21] | |
c.439G > A | p.E147K | [15] | |
c.617A > G | p.N206S | [22] | |
c.385G > A | p.E129K | [22] | |
c.109G > A | p.V37I | [19] | |
c.269 T > C | p.L90P | [23] | |
c.550C > G | p.R184W | [24] | |
c.551G > C | p.R184P | [25] | |
c.516G > A | p.W172X | [15] | |
c.224G > A | p.R75Q | [15] | |
c.101 T > C | p.M34T | [26] | |
c.457G > A | p.V153I | [15] | |
c.503A > G | p.K168R | [15] | |
c.35delG | Frameshift | [27] | |
c.167delT | Frameshift | [27] | |
c.235delC | Frameshift | ||
GJB6 (ID 10804) | c.6013G > T | ||
OTOF (ID 9381) | c.2485C > T | p.Q829X | [28] |
miR96 (ID 407053) | c.13G > A | [29] | |
c.14C > A | [29] | ||
TMC1 (ID 117531) | c.1939 T > C | p.S647P | [30] |
CRYL1 (ID 51084) | c.1622 T > C | ||
MT-TS1 (ID 4574) | m.7445A > G | [31] | |
MT-RNR1 (ID 6775087) | m.1555A > G | [32] | |
m.827A > G | [33] | ||
m.1494C > T | [34] | ||
SLC26A4 (ID 5172) | c.445G > A | p.G149R | [35] |
c.1238A > G | p.Q413R | [35] | |
c.1826 T > G | p.V609G | [36] |